Search results for "hernia"

The MalaCard for "hernia" has been retired.
Searching MalaCards for entries containing "hernia"

881 hits were found for 'hernia'

# Family MCID Name MIFTS Score
1
P CNG015 Congenital Diaphragmatic Hernia 65 6.900
2
HTS001 Hiatus Hernia 43 5.087
3
DNN002 Donnai-Barrow Syndrome 41 5.085
4
c DPH016 Diaphragmatic Hernia 3 14 3.751
5
FRY002 Fryns Syndrome 42 3.481
6
GLL032 Galloway-Mowat Syndrome 47 3.437
7
ACR089 Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 8 3.368
8
LMB010 Lambert Syndrome 37 2.933
9
MCR090 Microspherophakia with Hernia 4 2.922
10
DND012 Dandy-Walker Malformation with Nasopharyngeal Teratoma and Diaphragmatic Hernia 3 2.922
11
DPH010 Diaphragmatic Hernia Exomphalos Corpus Callosum Agenesis 3 2.911
12
ABD010 Abdominal Wall Defect 39 2.554
13
P SHR029 Short Syndrome 57 2.472
14
KNN003 Kennerknecht Vogel Syndrome 22 2.394
15
GRS006 Gershoni-Baruch Syndrome 6 2.381
16
DPH011 Diaphragmatic Hernia Upper Limb Defects 4 2.381
17
ART051 Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 2 2.381
18
HYD024 Hydrocephaly Corpus Callosum Agenesis Diaphragmatic Hernia 1 2.381
19
c DH1001 Dih1-Related Congenital Diaphragmatic Hernia 5 2.366
20
HRN002 Hernia of Ovary and Fallopian Tube 5 2.366
21
MRF012 Marfanoid Habitus - Inguinal Hernia - Advanced Bone Age 5 2.366
22
SPG003 Spigelian Hernia-Cryptorchidism Syndrome 3 2.366
23
SHP002 Shprintzen-Goldberg Syndrome 60 1.770
24
P PRS049 Persistent Mullerian Duct Syndrome 48 1.770
25
GST056 Gastrocutaneous Syndrome 15 1.709
26
DSP001 Displacement of Cardia Through Esophageal Hiatus 6 1.709
27
APL011 Aplasia Cutis Myopia 15 1.673
28
MGR005 Megarbane Syndrome 4 1.673
29
SLB001 Saal Bulas Syndrome 4 1.673
30
P ESP024 Esophagitis 62 0.275
31
P INT070 Intestinal Obstruction 61 0.178
32
HYD005 Hydrocele 49 0.175
33
GST092 Gastroesophageal Reflux 60 0.137
34
P PLM037 Pulmonary Hypertension 92 0.116
35
MCK002 Meckel's Diverticulum 42 0.116
36
CRY002 Cryptorchidism 65 0.114
37
P EHL049 Ehlers-Danlos Syndrome Classical Type 62 0.108
38
PPT001 Peptic Esophagitis 32 0.108
39
OMP004 Omphalocele 49 0.105
40
DDN006 Duodenitis 55 0.100
41
ESP020 Esophageal Atresia 53 0.100
42
APP008 Appendicitis 55 0.097
43
ANR040 Aneurysm 45 0.097
44
ENT001 Enterocele 28 0.091
45
P OBS005 Obesity 98 0.087
46
FCL009 Focal Dermal Hypoplasia 59 0.087
47
AND015 Androgen Insensitivity 78 0.084
48
ART016 Aortic Aneurysm 71 0.084
49
GST009 Gastroschisis 64 0.084
50
P HPT021 Hepatitis 63 0.084
51
GST064 Gastric Outlet Obstruction 39 0.084
52
PSD007 Pseudomyxoma Peritonei 68 0.080
53
P ABD003 Abdominal Aortic Aneurysm 67 0.080
54
CRD001 Cardiac Tamponade 54 0.080
55
PNM008 Pneumothorax 48 0.080
56
PRT036 Peritonitis 71 0.077
57
GST023 Gastric Ulcer 65 0.077
58
P THY032 Thyroiditis 65 0.077
59
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 42 0.077
60
BLD045 Bladder Diverticulum 28 0.077
61
P TRT010 Teratoma 57 0.073
62
ART001 Arterial Tortuosity Syndrome 56 0.073
63
P CHR345 Chronic Pain 46 0.073
64
GST007 Gastric Dilatation 27 0.073
65
MRF001 Marfan Syndrome 86 0.068
66
P SMP003 Simpson-Golabi-Behmel Syndrome 67 0.068
67
P LPS002 Liposarcoma 64 0.068
68
P DDN001 Duodenal Ulcer 60 0.068
69
P ADN016 Adenocarcinoma 57 0.068
70
P INF032 Infertility 53 0.068
71
PLM064 Pulmonary Sequestration 33 0.068
72
DPH006 Diaphragmatic Eventration 32 0.068
73
WND002 Wandering Spleen 28 0.068
74
LPM004 Lipoma 64 0.064
75
P CFF001 Coffin-Siris Syndrome 61 0.064
76
VGN023 Vaginitis 59 0.064
77
MRB003 Morbid Obesity 55 0.064
78
CMP034 Complete Androgen Insensitivity Syndrome 55 0.064
79
MLN007 Male Infertility 52 0.064
80
TRC040 Tracheoesophageal Fistula 51 0.064
81
CHL004 Cholelithiasis 47 0.064
82
INT071 Intestinal Perforation 40 0.064
83
c EHL027 Ehlers-Danlos Syndrome, Type Viic 36 0.064
84
TBR010 Tuberculosis 84 0.059
85
MNK001 Menkes Disease 74 0.059
86
P BCK002 Beckwith-Wiedemann Syndrome 71 0.059
87
WLL001 Williams-Beuren Syndrome 66 0.059
88
GSG001 Gas Gangrene 66 0.059
89
P KDN018 Kidney Disease 64 0.059
90
P EHL001 Ehlers-Danlos Syndrome 64 0.059
91
ACR008 Acrocallosal Syndrome 63 0.059
92
DFC004 Deficiency Anemia 61 0.059
93
MCR013 Microphthalmia 60 0.059
94
c MCP009 Mucopolysaccharidosis Ii 59 0.059
95
P MST018 Mesothelioma 58 0.059
96
P ESC003 Escobar Syndrome 56 0.059
97
GRG001 Greig Cephalopolysyndactyly Syndrome 56 0.059
98
P BLN003 Blindness 54 0.059
99
STS002 Situs Inversus 53 0.059
100
END072 Endotheliitis 51 0.059
101
PYL006 Pyloric Stenosis 49 0.059
102
DVR002 Diverticulitis 48 0.059
103
PSD009 Pseudohermaphroditism 47 0.059
104
NSP002 Nasopharyngitis 46 0.059
105
FSC004 Fasciitis 45 0.059
106
SCH068 Schwartz-Jampel Syndrome, Type 1 38 0.059
107
CRB009 Cerebritis 37 0.059
108
c ACH035 Achondrogenesis Ib 33 0.059
109
15Q002 15q24 Microdeletion Syndrome 28 0.059
110
DDN009 Duodenal Obstruction 25 0.059
111
CYS001 Cystic Fibrosis 100 0.054
112
P OST005 Osteogenesis Imperfecta 85 0.054
113
LVR012 Liver Cirrhosis 75 0.054
114
P VLC001 Velocardiofacial Syndrome 70 0.054
115
P PNC044 Pancreatitis 68 0.054
116
P CRN015 Cornelia De Lange Syndrome 66 0.054
117
P HYP097 Hyperekplexia 66 0.054
118
WGR001 Wagr Syndrome 65 0.054
119
c MCP003 Mucopolysaccharidosis Vii 65 0.054
120
ARS001 Aarskog-Scott Syndrome 65 0.054
121
OCC006 Occipital Horn Syndrome 64 0.054
122
P PLY014 Polycystic Kidney Disease 61 0.054
123
CHL067 Cholecystitis 59 0.054
124
OCL005 Oculocerebrorenal Syndrome 59 0.054
125
WLF002 Wolf-Hirschhorn Syndrome 56 0.054
126
IRN001 Iron Deficiency Anemia 55 0.054
127
c EHL032 Ehlers-Danlos Syndrome, Type Viib 55 0.054
128
P CMP008 Compartment Syndrome 54 0.054
129
c EHL057 Ehlers-Danlos Syndrome, Type Iv 54 0.054
130
DYS073 Dysphagia 51 0.054
131
IMP002 Imperforate Anus 51 0.054
132
VSC044 Visceral Myopathy 50 0.054
133
OBS001 Obstructive Jaundice 49 0.054
134
P PRT096 Peritoneal Mesothelioma 48 0.054
135
P SLD010 Sialidosis, Type I 48 0.054
136
ABD004 Abdominal Tuberculosis 46 0.054
137
NCR007 Necrotizing Fasciitis 44 0.054
138
SYN036 Syncope 43 0.054
139
c MCP012 Mucopolysaccharidosis Ih 42 0.054
140
c SPN121 Spondylocostal Dysostosis 1 40 0.054
141
CRN248 Craniofrontonasal Dysplasia 40 0.054
142
c RBN009 Robinow Syndrome, Autosomal Recessive 38 0.054
143
c CTS034 Cutis Laxa, Autosomal Recessive Type 1 36 0.054
144
INT052 Intestinal Volvulus 31 0.054
145
c RBN011 Robinow Syndrome, Autosomal Dominant 29 0.054
146
PLL008 Pallister-Killian Syndrome 29 0.054
147
RTR012 Retroperitoneal Liposarcoma 23 0.054
148
SCR025 Scarf Syndrome 22 0.054
149
MLL004 Mallory-Weiss Syndrome 22 0.054
150
c EHL016 Ehlers-Danlos Syndrome Type 5 21 0.054
151
NSP010 Nasopharyngeal Teratoma 19 0.054
152
DFN031 Deafness, Epiphyseal Dysplasia, Short Stature 14 0.054
153
TTR001 Tetralogy of Fallot 76 0.048
154
P ANG001 Angelman Syndrome 76 0.048
155
PTR006 Peters Anomaly 75 0.048
156
DNY001 Denys-Drash Syndrome 70 0.048
157
LMY002 Leiomyoma 68 0.048
158
c MCP024 Mucopolysaccharidosis Type Vi 68 0.048
159
P DST002 Distal Arthrogryposis 67 0.048
160
P PRT013 Portal Hypertension 66 0.048
161
ANN002 Anencephaly 65 0.048
162
VCT001 Vacterl Association 63 0.048
163
CHR103 Charge Syndrome 62 0.048
164
INT051 Intussusception 61 0.048
165
ACH005 Achalasia 61 0.048
166
EDW001 Edwards Syndrome 60 0.048
167
CRD002 Cri-Du-Chat Syndrome 57 0.048
168
P CTS001 Cutis Laxa 57 0.048
169
c MLG002 Malignant Peritoneal Mesothelioma 57 0.048
170
P WVR001 Weaver Syndrome 56 0.048
171
PRC012 Pericardial Effusion 56 0.048
172
P MNT147 Mental Retardation 56 0.048
173
URT001 Urethritis 54 0.048
174
PLY012 Polyhydramnios 53 0.048
175
MCN001 Mucinous Adenocarcinoma 52 0.048
176
P HYD002 Hydronephrosis 52 0.048
177
P SPN183 Spontaneous Pneumothorax 52 0.048
178
ASP002 Aspartylglucosaminuria 51 0.048
179
P HYP009 Hypertrophic Pyloric Stenosis 49 0.048
180
c EHL055 Ehlers-Danlos Syndrome, Type Iii 49 0.048
181
ACT055 Actinomycosis 46 0.048
182
HRM002 Hermaphroditism 46 0.048
183
c EHL054 Ehlers-Danlos Syndrome, Type Vi 46 0.048
184
MDS022 Mediastinitis 45 0.048
185
AGN013 Agenesis of the Corpus Callosum 45 0.048
186
c MCL062 Mucolipidosis Ii Alpha/beta 44 0.048
187
EMN001 Emanuel Syndrome 41 0.048
188
c CTS030 Cutis Laxa, Autosomal Recessive, Type Ia 34 0.048
189
CHR518 Chromosome 9p Deletion Syndrome 31 0.048
190
MCH011 Meacham Syndrome 31 0.048
191
2Q3002 2q37 Microdeletion Syndrome 31 0.048
192
c OMD001 Omodysplasia 1 30 0.048
193
CHR224 Chromosome 1q Duplication 27 0.048
194
CHR266 Chromosome 8p23.1 Deletion 25 0.048
195
URC005 Urachal Cyst 24 0.048
196
LWR007 Lowry Maclean Syndrome 22 0.048
197
SPL017 Splenogonadal Fusion Limb Defects Micrognatia 18 0.048
198
CPR003 Cooper-Jabs Syndrome 15 0.048
199
SMT004 Smith-Lemli-Opitz Syndrome 85 0.042
200
GST019 Gastrointestinal Stromal Tumor 84 0.042
201
NRL016 Neural Tube Defects 79 0.042
202
P PNM007 Pneumonia 76 0.042
203
P HLP001 Holoprosencephaly 75 0.042
204
APR006 Apert Syndrome 74 0.042
205
LPR018 Leprechaunism 70 0.042
206
P CNG401 Congenital Heart Disease 70 0.042
207
P RSP003 Respiratory Failure 68 0.042
208
P NPH012 Nephrotic Syndrome 68 0.042
209
P PLM036 Pulmonary Fibrosis 67 0.042
210
SMT008 Smith-Magenis Syndrome 63 0.042
211
P LRY019 Laryngitis 63 0.042
212
CLT003 Colitis 62 0.042
213
P ACR001 Aicardi-Goutieres Syndrome 62 0.042
214
P PTT014 Pitt-Hopkins Syndrome 60 0.042
215
OST044 Osteoglophonic Dysplasia 58 0.042
216
P DGR001 Digeorge Syndrome 57 0.042
217
ANR004 Anuria 57 0.042
218
PTN002 Patent Ductus Arteriosus 57 0.042
219
c MCP026 Mucopolysaccharidosis Type Iiib 56 0.042
220
P MCR010 Microcephaly 56 0.042
221
P PNC045 Pancreatic Agenesis 56 0.042
222
PST041 Posterior Urethral Valves 56 0.042
223
RTN017 Retinal Detachment 55 0.042
224
P INT030 Intracranial Aneurysm 55 0.042
225
ULN003 Ulnar-Mammary Syndrome 54 0.042
226
PTS001 Patau Syndrome 53 0.042
227
c MCP037 Mucopolysaccharidosis is 53 0.042
228
RTN023 Retinitis 51 0.042
229
P SCL018 Scoliosis 51 0.042
230
P ACH011 Achondrogenesis 50 0.042
231
VRC001 Varicocele 48 0.042
232
TRN044 Transposition of the Great Arteries 48 0.042
233
c MNN025 Mannosidosis, Alpha-, Types I and Ii 48 0.042
234
AZS001 Azoospermia 47 0.042
235
P MLT134 Multiple Pterygium Syndrome, Lethal Type 47 0.042
236
CHY006 Chylous Ascites 47 0.042
237
LYM021 Lymphadenitis 45 0.042
238
P MCR260 Microphthalmia, Syndromic 7 45 0.042
239
MTB004 Metabolic Acidosis 44 0.042
240
DYS018 Dysostosis 44 0.042
241
ILS001 Ileus 44 0.042
242
HYP622 Hypertrichotic Osteochondrodysplasia 44 0.042
243
EXS007 Exstrophy of the Bladder 44 0.042
244
GPS001 Gapo Syndrome 43 0.042
245
c ACH033 Achondrogenesis, Type Ia 43 0.042
246
P DBR002 De Barsy Syndrome 41 0.042
247
P KLF001 Kleefstra Syndrome 41 0.042
248
DDN004 Duodenogastric Reflux 40 0.042
249
P MNN007 Meningocele 40 0.042
250
ACH032 Achondrogenesis, Type Ii or Hypochondrogenesis 40 0.042
251
UTR039 Uterine Fibroid 39 0.042
252
c CTS008 Cutis Laxa, Autosomal Dominant 38 0.042
253
MGS001 Megaesophagus 38 0.042
254
SPL006 Splenic Infarction 38 0.042
255
PRL032 Perlman Syndrome 37 0.042
256
c SMP007 Simpson-Golabi-Behmel Syndrome, Type 1 35 0.042
257
PNT005 Pentalogy of Cantrell 35 0.042
258
48X003 48,xxyy Syndrome 34 0.042
259
ABL001 Ablepharon Macrostomia Syndrome 34 0.042
260
c MCP036 Mucopolysaccharidosis Ih/s 34 0.042
261
LTR009 Lateral Meningocele Syndrome 33 0.042
262
NNT039 Neonatal Marfan Syndrome 32 0.042
263
BHR002 Bohring-Opitz Syndrome 32 0.042
264
MCH008 Michelin Tire Baby Syndrome 32 0.042
265
c CRN139 Cornelia De Lange Syndrome 1 31 0.042
266
RTS001 Ritscher-Schinzel Syndrome 31 0.042
267
LNZ003 Lenz-Majewski Hyperostotic Dwarfism 31 0.042
268
c HYP539 Hyperekplexia, Hereditary 1, Autosomal Dominant or Recessive 30 0.042
269
INN003 Iniencephaly 30 0.042
270
16P002 16p11.2 Deletion Syndrome 30 0.042
271
TRS012 Trisomy 22 29 0.042
272
TRL003 Toriello Carey Syndrome 29 0.042
273
17Q004 17q12 Microdeletion Syndrome 28 0.042
274
PNC092 Pancreatic Agenesis and Congenital Heart Defects 26 0.042
275
c HTR007 Heterotopia, Periventricular, Ed Variant 25 0.042
276
AXL004 Axial Mesodermal Dysplasia Spectrum 25 0.042
277
DYS160 Dyssegmental Dysplasia, Silverman-Handmaker Type 25 0.042
278
BDS002 Bod Syndrome 25 0.042
279
CHR229 Chromosome 20p Duplication 23 0.042
280
PNM003 Pneumatosis Cystoides Intestinalis 23 0.042
281
TLH001 Tel Hashomer Camptodactyly Syndrome 23 0.042
282
DST041 Distal Monosomy 3p 22 0.042
283
KLF003 Kleefstra Syndrome Due to 9q34 Microdeletion 21 0.042
284
c OPT050 Opitz Gbbb Syndrome, Type Ii 19 0.042
285
FML277 Familial Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement 19 0.042
286
48X002 48,xxxy Syndrome 18 0.042
287
CHL076 Chilaiditi Syndrome 18 0.042
288
DRM037 Dermato-Cardio-Skeletal Syndrome, Borrone Type 18 0.042
289
SND005 Sandifer Syndrome 16 0.042
290
ANP015 Anophthalmia Megalocornea Cardiopathy Skeletal Anomalies 16 0.042
291
ESP029 Esophageal Atresia/tracheoesophageal Fistula 16 0.042
292
CRN224 Craniofaciofrontodigital Syndrome 15 0.042
293
DST071 Distal Monosomy 19p13.3 15 0.042
294
PLM013 Pulmonary Immaturity 14 0.042
295
XLN145 X-Linked Intellectual Disability, Pai Type 13 0.042
296
CTR089 Cataract - Aberrant Oral Frenula - Growth Delay 12 0.042
297
HPT023 Hepatocellular Carcinoma 100 0.034
298
P ATX030 Ataxia-Telangiectasia 86 0.034
299
P DBT085 Diabetes Mellitus, Insulin-Dependent 85 0.034
300
INC002 Inclusion Body Myositis 80 0.034
301
c FNC027 Fanconi Anemia, Complementation Group a 78 0.034
302
ESP021 Esophageal Cancer 76 0.034
303
LKC001 Leukocyte Adhesion Deficiency 75 0.034
304
THY028 Thyroid Cancer 74 0.034
305
MCK007 Muckle-Wells Syndrome 72 0.034
306
P MYS005 Myositis 71 0.034
307
PLL001 Pallister-Hall Syndrome 69 0.034
308
P END044 Endometriosis 68 0.034
309
ALC007 Alcohol Dependence 68 0.034
310
PHR003 Pharyngitis 65 0.034
311
P GST044 Gastritis 65 0.034
312
P HYD006 Hydrocephalus 65 0.034
313
TTN003 Tetanus 64 0.034
314
ACN002 Acanthosis Nigricans 63 0.034
315
ULC004 Ulcerative Colitis 63 0.034
316
CRB037 Cerebral Palsy 63 0.034
317
P HYP040 Hypospadias 62 0.034
318
c GNG001 Gangliosidosis Gm1 62 0.034
319
c MCP004 Mucopolysaccharidosis Iv 62 0.034
320
P KLP003 Klippel-Feil Syndrome 62 0.034
321
MYL020 Myelomeningocele 62 0.034
322
P FTL001 Fetal Alcohol Syndrome 62 0.034
323
JCB001 Jacobsen Syndrome 61 0.034
324
ISC004 Ischemia 61 0.034
325
P LMY004 Leiomyosarcoma 61 0.034
326
P AND016 Andersen Syndrome 61 0.034
327
LWS003 Lowe Syndrome 61 0.034
328
P CNJ013 Conjunctivitis 61 0.034
329
P MYP004 Myopathy 61 0.034
330
MYC002 Mycobacterium Avium Complex Disease 59 0.034
331
DWN001 Down Syndrome 59 0.034
332
OLG003 Oligohydramnios 59 0.034
333
SPN020 Spondylosis 58 0.034
334
BLR001 Biliary Atresia 58 0.034
335
AMN001 Amenorrhea 57 0.034
336
P AXN010 Axenfeld-Rieger Syndrome, Type 3 57 0.034
337
P OCL013 Oculodentodigital Dysplasia 57 0.034
338
HYP266 Hypoxia 57 0.034
339
ALV006 Alveolar Capillary Dysplasia 57 0.034
340
P NML001 Nemaline Myopathy 56 0.034
341
c EHL056 Ehlers-Danlos Syndrome, Type I 56 0.034
342
FLT006 Floating-Harbor Syndrome 56 0.034
343
CCH002 Coach Syndrome 55 0.034
344
BLD044 Bladder Disease 54 0.034
345
RDC002 Radiculopathy 54 0.034
346
PRT019 Protein-Losing Enteropathy 54 0.034
347
ART017 Aortic Disease 53 0.034
348
c MYT021 Myotonic Dystrophy 1 53 0.034
349
SWY002 Swyer Syndrome 53 0.034
350
CYS014 Cystadenocarcinoma 53 0.034
351
ACR012 Aicardi Syndrome 53 0.034
352
CNS004 Constipation 52 0.034
353
c SPN225 Spondyloarthropathy 1 52 0.034
354
GST045 Gastroenteritis 52 0.034
355
ISC015 Ischemic Colitis 52 0.034
356
THR013 Thoracic Outlet Syndrome 52 0.034
357
KNS001 Kniest Dysplasia 51 0.034
358
ESN005 Eosinophilic Gastroenteritis 51 0.034
359
P NNT009 Neonatal Diabetes Mellitus 51 0.034
360
MCR103 Microtia 50 0.034
361
PYD002 Pyoderma 50 0.034
362
ALB002 Albinism 50 0.034
363
P SPN016 Spondylocostal Dysostosis 49 0.034
364
ORC001 Orchitis 49 0.034
365
P KBK002 Kabuki Syndrome 1 49 0.034
366
HJD001 Hajdu-Cheney Syndrome 48 0.034
367
P EHL047 Ehlers-Danlos Syndrome, Musculocontractural Type 1 47 0.034
368
SMN007 Seminoma 47 0.034
369
FBR019 Fibromatosis 46 0.034
370
SCR024 Sacrococcygeal Teratoma 46 0.034
371
DDN011 Duodenal Atresia 46 0.034
372
HMN016 Hemangioendothelioma 45 0.034
373
PHL006 Phelan-Mcdermid Syndrome 45 0.034
374
P TRC086 Trichohepatoenteric Syndrome 1 45 0.034
375
INC011 Incontinentia Pigmenti, Type Ii 45 0.034
376
RVL002 Ruvalcaba Syndrome 45 0.034
377
P OVR046 Ovarian Cyst 45 0.034
378
FTL007 Fetal Hydantoin Syndrome 45 0.034
379
HRS011 Horseshoe Kidney 44 0.034
380
PLR007 Pleural Empyema 44 0.034
381
BRS090 Breast Reconstruction 44 0.034
382
CSY001 C Syndrome 44 0.034
383
c ART117 Arthrogryposis, Distal, Type 2b 43 0.034
384
PLR005 Pleuropneumonia 42 0.034
385
MYH012 Myhre Syndrome 42 0.034
386
SRF006 Surfactant Dysfunction 41 0.034
387
c ORF034 Orofaciodigital Syndrome Vi 41 0.034
388
c MCL016 Mucolipidosis Iii Gamma 41 0.034
389
CRN088 Craniorachischisis 41 0.034
390
TRN060 Truncus Arteriosus 40 0.034
391
NCL006 Nicolaides-Baraitser Syndrome 40 0.034
392
MSC007 Muscle Hypertrophy 40 0.034
393
PLN006 Poland Syndrome 40 0.034
394
c FML297 Familial Thyroid Dyshormonogenesis 40 0.034
395
EXN003 Exencephaly 39 0.034
396
SPR035 Superior Vena Cava Syndrome 39 0.034
397
WRN004 Wrinkly Skin Syndrome 38 0.034
398
HM3001 Hemi 3 Syndrome 37 0.034
399
MYC015 Mycobacterium Fortuitum 37 0.034
400
c ART101 Aortic Valve Disease 2 37 0.034
401
ARS002 Arsacs 37 0.034
402
DST056 Distal 22q11.2 Microdeletion Syndrome 36 0.034
403
c HYP488 Hypothyroidism Due to Deficient Transcription Factors Involved in Pituitary Development or Function 35 0.034
404
PRL008 Paralytic Ileus 35 0.034
405
HYP007 Hypermobility Syndrome 35 0.034
406
GRD006 Geroderma Osteodysplastica 35 0.034
407
WLS004 Wilson-Turner Syndrome 35 0.034
408
ADS002 Adie Syndrome 34 0.034
409
HMC016 Homocystinuria Due to Cbs Deficiency 34 0.034
410
SPN205 Spinal Muscular Atrophy, X-Linked 2, Infantile 33 0.034
411
c MCR256 Microphthalmia, Syndromic 9 33 0.034
412
OCL034 Oculocerebrocutaneous Syndrome 33 0.034
413
HML015 Hemolytic Anemia Due to Triosephosphate Isomerase Deficiency 33 0.034
414
THY099 Thyroid Hemiagenesis 33 0.034
415
c PNM010 Pneumothorax, Primary Spontaneous 33 0.034
416
PRP074 Peripheral Resistance to Thyroid Hormones 32 0.034
417
LYS016 Loeys-Dietz Syndrome, Type 3 32 0.034
418
RGR002 Rieger Syndrome, Type 2 32 0.034
419
CRN048 Craniofacial-Deafness-Hand Syndrome 31 0.034
420
SKT001 Sakati Syndrome 31 0.034
421
IMM013 Immunodeficiency, Centromere Instability and Facial Anomalies Syndrome 31 0.034
422
TFT003 Tufting Enteropathy 31 0.034
423
FMR006 Femoral Facial Syndrome 31 0.034
424
c CTS019 Cutis Laxa, Ad 31 0.034
425
UND005 Undifferentiated Pleomorphic Sarcoma 30 0.034
426
EHL044 Ehlers-Danlos Syndrome, Autosomal Recessive, Due to Tenascin X Deficiency 30 0.034
427
HNM002 Hinman Syndrome 29 0.034
428
P ATX010 Ataxia Neuropathy Spectrum 29 0.034
429
PRD015 Proud Levine Carpenter Syndrome 28 0.034
430
EPD046 Epididymitis 28 0.034
431
OCL033 Oculocerebral Syndrome with Hypopigmentation 28 0.034
432
IFP001 Ifap Syndrome with or Without Bresheck Syndrome 28 0.034
433
MSM004 Mesomelia-Synostoses Syndrome 28 0.034
434
PSD046 Pseudotrisomy 13 Syndrome 28 0.034
435
1Q2001 1q21.1 Microdeletion 28 0.034
436
DND017 Dandy-Walker Malformation with Intellectual Disability, Basal Ganglia Disease and Seizures 26 0.034
437
IRN002 Iron Metabolism Disease 26 0.034
438
P VCT008 Vacterl with Hydrocephalus 25 0.034
439
ESP025 Esophagus Adenocarcinoma 25 0.034
440
c CTS033 Cutis Laxa, Autosomal Recessive, Type Ic 25 0.034
441
GRL002 Gorlin Chaudhry Moss Syndrome 25 0.034
442
ACR029 Acrofacial Dysostosis Catania Type 24 0.034
443
OPT054 Opitz-Kaveggia Syndrome 23 0.034
444
ACR047 Acrorenal Mandibular Syndrome 23 0.034
445
17P002 17p13.3 Microduplication Syndrome 22 0.034
446
PLY031 Polydactyly Myopia Syndrome 22 0.034
447
BRC019 Brachycephalofrontonasal Dysplasia 22 0.034
448
INT011 Interstitial Emphysema 22 0.034
449
SPL022 Split Hand Urinary Anomalies Spina Bifida 22 0.034
450
DFN279 Deafness - Intellectual Disability, Martin-Probst Type 22 0.034
451
LMB013 Limb Reduction Defect 21 0.034
452
CRN083 Craniofacial Dyssynostosis 21 0.034
453
c CTS029 Cutis Laxa, Autosomal Recessive, Type Iiia 21 0.034
454
EHL042 Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss 21 0.034
455
LYS014 Loeys-Dietz Syndrome, Type 2 21 0.034
456
ACH018 Achondroplasia and Severe Combined Immunodeficiency 21 0.034
457
SCH025 Schisis Association 21 0.034
458
JNT001 Joint Laxity, Familial 21 0.034
459
TTR012 Tetrasomy 9p 21 0.034
460
CTS039 Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis 21 0.034
461
2Q3005 2q31.1 Microdeletion Syndrome 21 0.034
462
CRN190 Craniosynostosis - Fibular Aplasia 20 0.034
463
TBB001 Tibia Absent Polydactyly Arachnoid Cyst 20 0.034
464
MCN018 Mucinous Adenocarcinoma of the Appendix 20 0.034
465
AND005 Androgen Insensitivity Syndrome, Mild 19 0.034
466
MNT031 Mental Retardation Wolff Type 19 0.034
467
GNT017 Genito Palato Cardiac Syndrome 19 0.034
468
INT090 Intellectual Deficit Buenos-Aires Type 19 0.034
469
ISL090 Isolated Thyroid-Stimulating Hormone Deficiency 19 0.034
470
c CTS037 Cutis Laxa, Autosomal Recessive, Type Ib 19 0.034
471
BRD023 Bird Headed Dwarfism Montreal Type 19 0.034
472
BLP009 Blepharonasofacial Malformation Syndrome 18 0.034
473
c CRP022 Carpenter Syndrome 2 18 0.034
474
AZY001 Azygos Continuation of the Inferior Vena Cava 18 0.034
475
ART046 Arthrogryposis Multiplex Congenita Neurogenic Type 18 0.034
476
ARH001 Arhinia Choanal Atresia Microphthalmia 18 0.034
477
c MNS011 Monosomy 9q22.3 18 0.034
478
CRN226 Craniosynostosis - Hydrocephalus - Arnold-Chiari Malformation Type I - Radioulnar Synostosis 18 0.034
479
MLT123 Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, and Congenital Heart Defects 18 0.034
480
c HYP640 Hypothyroidism Due to Tsh Receptor Mutations 18 0.034
481
BND007 Bone Dysplasia Lethal Holmgren Type 18 0.034
482
DFF002 Diffuse Pulmonary Fibrosis 18 0.034
483
SVR009 Seaver Cassidy Syndrome 18 0.034
484
MNV001 Manouvrier Syndrome 18 0.034
485
CNG062 Congenital Bronchobiliary Fistula 18 0.034
486
SYM004 Say Meyer Syndrome 18 0.034
487
GRX001 Grix Blankenship Peterson Syndrome 17 0.034
488
DST045 Distal Trisomy 6p 17 0.034
489
STR034 Stratton-Garcia-Young Syndrome 17 0.034
490
BRC027 Brachydactyly Mononen Type 17 0.034
491
SPR040 Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 17 0.034
492
FLT008 Flat Face - Microstomia - Ear Anomaly 17 0.034
493
PFF004 Pfeiffer Palm Teller Syndrome 17 0.034
494
THY098 Thyroid Ectopia 17 0.034
495
KSZ002 Kosztolanyi Syndrome 17 0.034
496
c ADM010 Adams-Oliver Syndrome 5 17 0.034
497
ALG007 Al-Gazali-Donnai-Mueller Syndrome 17 0.034
498
MLG089 Malignant Hyperthermia Arthrogryposis Torticollis 17 0.034
499
MYC060 Mycophenolate Mofetil Embryopathy 16 0.034
500
ANR012 Aniridia Absent Patella 16 0.034
501
XLN129 X-Linked Intellectual Disability, Armfield Type 16 0.034
502
P BRT029 Brittle Cornea Syndrome 2 16 0.034
503
RSS007 Resistance to Thyrotropin-Releasing Hormone Syndrome 16 0.034
504
DST037 Distal Monosomy 9p 16 0.034
505
GND006 Gonadal Dysgenesis Xy Type Associated Anomalies 16 0.034
506
NND005 Non-Distal Trisomy 13q 16 0.034
507
CRB056 Cerebellar Ataxia Ectodermal Dysplasia 16 0.034
508
CLF019 Cleft Palate Short Stature Vertebral Anomalies 16 0.034
509
RNL040 Renal Genital Middle Ear Anomalies 16 0.034
510
c ANT010 Anterior Compartment Syndrome 16 0.034
511
15Q003 15q14 Microdeletion Syndrome 16 0.034
512
CNG240 Congenital Unilateral Hypoplasia of Depressor Anguli Oris 16 0.034
513
c CNG339 Congenital Hypothyroidism Due to Transplacental Passage of Maternal Tsh-Binding Inhibitory Antibodies 16 0.034
514
INT245 Intellectual Disability - Polydactyly - Uncombable Hair 16 0.034
515
CLL022 Collins Pope Syndrome 16 0.034
516
SBR006 Subaortic Stenosis Short Stature Syndrome 16 0.034
517
PRG024 Progeroid Syndrome Petty Type 15 0.034
518
CHR382 Chromosome 18q Deletion Syndrome 15 0.034
519
YNG001 Young Hughes Syndrome 15 0.034
520
XLN177 X-Linked Intellectual Disability, Cabezas Type 15 0.034
521
DST038 Distal Monosomy 7q36 15 0.034
522
XLN125 X-Linked Intellectual Disability - Dysmorphism - Cerebral Atrophy 15 0.034
523
DSH001 Daish Hardman Lamont Syndrome 15 0.034
524
CNG235 Congenital Microgastria 15 0.034
525
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 15 0.034
526
ENC032 Encephalopathy Due to Beta-Mercaptolactate-Cysteine Disulfiduria 15 0.034
527
ECT071 Ectodermal Dysplasia - Intellectual Disability - Central Nervous System Malformation 15 0.034
528
CND009 Conductive Deafness with Malformed External Ear 15 0.034
529
FRS008 Froster-Huch Syndrome 15 0.034
530
MSC083 Muscular Pseudohypertrophy - Hypothyroidism 15 0.034
531
6P2001 6p22 Microdeletion Syndrome 15 0.034
532
HYP478 Hyposmia - Nasal and Ocular Hypoplasia - Hypogonadotropic Hypogonadism 15 0.034
533
MLL017 Müllerian Derivatives - Lymphangiectasia - Polydactyly 15 0.034
534
THY053 Thyroid Hormone Plasma Membrane Transport Defect 14 0.034
535
CNT062 Continuous Muscle Fiber Activity Hereditary 14 0.034
536
THK001 Thakker-Donnai Syndrome 14 0.034
537
NTL002 Natal Teeth, Intestinal Pseudoobstruction and Patent Ductus 14 0.034
538
MDR002 Medrano Roldan Syndrome 14 0.034
539
THR017 Thoracoabdominal Syndrome 13 0.034
540
PLM045 Palmer Pagon Syndrome 13 0.034
541
FTL024 Fetal Minoxidil Syndrome 12 0.034
542
KRS001 Krauss Herman Holmes Syndrome 12 0.034
543
CTS024 Cutis Laxa-Marfanoid Syndrome 12 0.034
544
MCK004 Meckel's Diverticulitis 12 0.034
545
PRC041 Pericardial and Diaphragmatic Defect 9 0.034
546
CNG131 Congenital Unilateral Pulmonary Hypoplasia 9 0.034
547
GSB001 Gas Bloat Syndrome 8 0.034
548
P MYC007 Myocardial Infarction 93 0.024
549
FBR012 Fabry Disease 86 0.024
550
P CSH001 Cushing's Syndrome 85 0.024
551
P NRF002 Neurofibromatosis 79 0.024
552
HV1006 Hiv-1 79 0.024
553
P PRM002 Primary Hyperoxaluria 78 0.024
554
P FRG001 Fragile X Syndrome 75 0.024
555
CRH001 Crohn's Disease 75 0.024
556
P AMY004 Amyloidosis 73 0.024
557
CFF002 Coffin-Lowry Syndrome 73 0.024
558
ABT001 Abetalipoproteinemia 72 0.024
559
P NRB001 Neuroblastoma 72 0.024
560
GLL008 Gilles De La Tourette Syndrome 72 0.024
561
P WLM002 Wilms Tumor 71 0.024
562
GLN010 Glanzmann Thrombasthenia 71 0.024
563
ANR002 Aniridia 71 0.024
564
P HMN010 Hemangioma 69 0.024
565
c CNG006 Congenital Hypothyroidism 69 0.024
566
P CRN037 Craniosynostosis 69 0.024
567
P FCS002 Fucosidosis 68 0.024
568
P HYP055 Hypoplastic Left Heart Syndrome 68 0.024
569
c HPT016 Hepatitis B 68 0.024
570
CST001 Costello Syndrome 68 0.024
571
P FCL005 Focal Segmental Glomerulosclerosis 68 0.024
572
P CNV004 Canavan Disease 67 0.024
573
c NRF019 Neurofibromatosis, Type 2 67 0.024
574
PLM033 Pulmonary Embolism 66 0.024
575
BRN024 Bronchitis 66 0.024
576
TWN003 Townes-Brocks Syndrome 66 0.024
577
CNT097 Central Hypoventilation Syndrome, Congenital 65 0.024
578
c SYS005 Systemic Scleroderma 65 0.024
579
P GLL020 Gallbladder Disease 64 0.024
580
LDD001 Ladd Syndrome 64 0.024
581
MXD005 Mixed Connective Tissue Disease 64 0.024
582
BBS001 Babesiosis 63 0.024
583
c DYS166 Dysautonomia, Familial 63 0.024
584
CMP002 Campylobacteriosis 62 0.024
585
c HYP595 Hypertension, Essential 62 0.024
586
PLY023 Polycystic Liver Disease 62 0.024
587
TYP007 Typhoid Fever 61 0.024
588
SPN027 Spinal Stenosis 61 0.024
589
BRN022 Bronchiectasis 61 0.024
590
P SCK004 Seckel Syndrome 61 0.024
591
ART031 Aortic Coarctation 60 0.024
592
MCK005 Mckusick-Kaufman Syndrome 60 0.024
593
PTN001 Patent Foramen Ovale 60 0.024
594
P MCK022 Meckel Syndrome 1 60 0.024
595
PLY041 Polymyositis 59 0.024
596
RHB003 Rhabdomyosarcoma 59 0.024
597
P RBN002 Robinow Syndrome 59 0.024
598
P STC001 Stickler Syndrome 59 0.024
599
DFF003 Diffuse Scleroderma 59 0.024
600
P DBT083 Diabetes Mellitus, Permanent Neonatal 58 0.024
601
NRC020 Neuroectodermal Tumor 58 0.024
602
PRS047 Prostatitis 58 0.024
603
P THR003 Thoracic Aortic Aneurysm 58 0.024
604
P SCK002 Sick Sinus Syndrome 58 0.024
605
WHM001 Whim Syndrome 58 0.024
606
NRL005 Neurilemmoma 58 0.024
607
CHL068 Cholestasis 58 0.024
608
CNN005 Connective Tissue Disease 58 0.024
609
P DBT005 Diabetes Insipidus 57 0.024
610
NRN001 Neuroendocrine Carcinoma 57 0.024
611
OST017 Osteomyelitis 57 0.024
612
HYP063 Hypersplenism 57 0.024
613
P MLS001 Melas Syndrome 57 0.024
614
HMF006 Hemifacial Microsomia 57 0.024
615
MYC012 Mycetoma 57 0.024
616
MBS002 Moebius Syndrome 57 0.024
617
P SYR001 Syringomyelia 57 0.024
618
EPD016 Epidermolysis Bullosa 57 0.024
619
NRF007 Neurofibroma 57 0.024
620
BRN056 Bronchopulmonary Dysplasia 57 0.024
621
P CNT061 Conotruncal Heart Malformations 56 0.024
622
BRN029 Brain Disease 56 0.024
623
HYP458 Hyper Ige Syndrome 56 0.024
624
LRY018 Laryngeal Squamous Cell Carcinoma 56 0.024
625
P CRV039 Cervicitis 56 0.024
626
LMT001 Limited Scleroderma 56 0.024
627
P PLY006 Polydactyly 56 0.024
628
P ENC008 Encephalocele 56 0.024
629
PYD001 Pyoderma Gangrenosum 56 0.024
630
HMS001 Hemosiderosis 56 0.024
631
CHL071 Child Syndrome 56 0.024
632
SNS001 Sensorineural Hearing Loss 55 0.024
633
P DND001 Dandy-Walker Syndrome 55 0.024
634
KLN001 Klinefelter's Syndrome 54 0.024
635
LYM022 Lymphangioma 54 0.024
636
CYS002 Cystic Lymphangioma 53 0.024
637
c PND001 Pain Disorder 53 0.024
638
PRM003 Premature Ejaculation 53 0.024
639
GST050 Gastrointestinal System Disease 53 0.024
640
c ACT210 Acute Respiratory Distress Syndrome 53 0.024
641
SCH016 Schimke Immunoosseous Dysplasia 53 0.024
642
HPY002 H. Pylori Infection 53 0.024
643
NRG002 Neurogenic Bladder 53 0.024
644
P SHR001 Short Bowel Syndrome 52 0.024
645
PPT005 Peptic Ulcer Disease 52 0.024
646
PRC013 Pericarditis 52 0.024
647
c HYP273 Hypothyroidism, Congenital, Due to Thyroid Dysgenesis or Hypoplasia 52 0.024
648
P EPS003 Episodic Ataxia 52 0.024
649
ACQ007 Acquired Immunodeficiency Syndrome 51 0.024
650
YLL001 Yellow Nail Syndrome 51 0.024
651
MLK003 Melkersson-Rosenthal Syndrome 51 0.024
652
CLR003 Clear Cell Adenocarcinoma 51 0.024
653
HYP542 Hypersensitivity Syndrome, Carbamazepine-Induced 50 0.024
654
GNT031 Genitopatellar Syndrome 50 0.024
655
MYC005 Myocardial Stunning 50 0.024
656
P PLG001 Pelger-Huet Anomaly 50 0.024
657
CLN015 Colon Adenocarcinoma 50 0.024
658
P PYL005 Pyelonephritis 50 0.024
659
ADN014 Adenomatoid Tumor 50 0.024
660
MCN008 Mucinous Cystadenocarcinoma 49 0.024
661
GST027 Gastric Lymphoma 49 0.024
662
P CST002 Castleman's Disease 49 0.024
663
CYS009 Cystadenoma 49 0.024
664
P NRV007 Nervous System Disease 49 0.024
665
P PLM030 Pleomorphic Rhabdomyosarcoma 49 0.024
666
ALP014 Alpha-Thalassemia/mental Retardation Syndrome 48 0.024
667
HYP005 Hypokalemia 48 0.024
668
P INT060 Intestinal Atresia 48 0.024
669
P XRD010 Xeroderma Pigmentosum, Variant Type 48 0.024
670
1P3001 1p36 Deletion Syndrome 48 0.024
671
SLR001 Sialuria 48 0.024
672
NRT004 Neuritis 48 0.024
673
ASP007 Aspiration Pneumonia 47 0.024
674
c CNT035 Central Nervous System Disease 47 0.024
675
KRT002 Keratomalacia 47 0.024
676
MYX005 Myxoid Liposarcoma 47 0.024
677
P MYP006 Myopia 47 0.024
678
P CRP007 Carpenter Syndrome 47 0.024
679
CNS002 Constrictive Pericarditis 46 0.024
680
RYN003 Reynolds Syndrome 46 0.024
681
P CHN014 Chondrodysplasia Punctata 46 0.024
682
NRL018 Neural Tube Defects, Folate-Sensitive 46 0.024
683
INT046 Intestinal Tuberculosis 46 0.024
684
URT010 Ureteral Obstruction 45 0.024
685
FBR054 Fibroma 45 0.024
686
MXD032 Mixed Germ Cell Tumor 45 0.024
687
c LRG014 Large Cell Neuroendocrine Carcinoma 45 0.024
688
CRN025 Corneal Dystrophy 45 0.024
689
MLG098 Malignant Mixed Mullerian Tumor 44 0.024
690
UNL007 Unilateral Renal Agenesis 44 0.024
691
ANG054 Angina Pectoris 44 0.024
692
46X012 46,xy Partial Gonadal Dysgenesis 44 0.024
693
c NRD017 Neurodegeneration with Brain Iron Accumulation 1 44 0.024
694
LYM011 Lymphogranuloma Venereum 43 0.024
695
CHN015 Chondrodysplasia 43 0.024
696
P TRC005 Tracheal Stenosis 43 0.024
697
DXT001 Dextrocardia 43 0.024
698
P OPT048 Opitz-Gbbb Syndrome 43 0.024
699
P RNL059 Renal-Hepatic-Pancreatic Dysplasia 43 0.024
700
RNL025 Renal Hypoplasia 42 0.024
701
TTR016 Tetra-Amelia Syndrome 42 0.024
702
P SCH017 Schindler Disease 42 0.024
703
c INF069 Infantile Neuroaxonal Dystrophy 1 42 0.024
704
P CYS017 Cystic Teratoma 42 0.024
705
c ACT042 Acute Pyelonephritis 41 0.024
706
c CNG216 Congenital Hydrocephalus 41 0.024
707
CLF027 Cleft Palate, Isolated 41 0.024
708
LPB001 Lipoblastoma 41 0.024
709
c MCP038 Mucopolysaccharidosis Iva 40 0.024
710
ESN020 Eosinophilic Granulomatosis with Polyangiitis 40 0.024
711
LRY029 Laryngomalacia 40 0.024
712
PRV003 Perivascular Epithelioid Cell Tumor 40 0.024
713
THR104 Thrombophilia Due to Antithrombin Iii Deficiency 40 0.024
714
RCT011 Rectal Prolapse 39 0.024
715
P ANP022 Anophthalmia/microphthalmia 39 0.024
716
ACR015 Acrocephalosyndactylia 39 0.024
717
ACL001 Acalculous Cholecystitis 39 0.024
718
MTR010 Mature Teratoma 39 0.024
719
CHR174 Christianson Syndrome 39 0.024
720
GNT020 Giant Congenital Nevus 39 0.024
721
c RNG010 Ring Chromosome 15 39 0.024
722
BLP004 Blepharophimosis 39 0.024
723
LNS001 Lens Subluxation 38 0.024
724
DXT002 Dextrocardia with Situs Inversus 38 0.024
725
PHM001 Phimosis 38 0.024
726
c GM1004 Gm1-Gangliosidosis, Type I 38 0.024
727
SMD002 Smed Strudwick Type 38 0.024
728
ALP016 Alpha-Thalassemia X-Linked Intellectual Disability Syndrome 38 0.024
729
PRT048 Partial Atrioventricular Canal 37 0.024
730
SCL017 Sclerosing Hemangioma 37 0.024
731
ZMM001 Zimmermann-Laband Syndrome 37 0.024
732
c OST037 Osteogenesis Imperfecta Type 2b 37 0.024
733
ACR058 Acrofacial Dysostosis 1, Nager Type 37 0.024
734
PRR016 Pierre Robin Syndrome 36 0.024
735
P MRD002 Marden-Walker Syndrome 36 0.024
736
PTC002 Potocki-Lupski Syndrome 36 0.024
737
c PRS068 Persistent Mullerian Duct Syndrome, Type Ii 36 0.024
738
TYL002 Tylosis with Esophageal Cancer 36 0.024
739
MRS004 Marshall-Smith Syndrome 36 0.024
740
SKL017 Skeletal Dysplasias 35 0.024
741
FCT013 Factor V Leiden Thrombophilia 35 0.024
742
PSL001 Pasli Disease 35 0.024
743
c MCP020 Mucopolysaccharidosis Type Iiic 35 0.024
744
RTR007 Retroperitoneal Leiomyosarcoma 35 0.024
745
MGL023 Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome, Somatic 35 0.024
746
DPH019 Diaphanospondylodysostosis 35 0.024
747
HYP143 Hypomyelination and Congenital Cataract 35 0.024
748
c FML087 Familial Renal Cell Carcinoma 34 0.024
749
DRS004 Door Syndrome 34 0.024
750
BLR002 Bile Reflux 34 0.024
751
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 0.024
752
SPR007 Superior Mesenteric Artery Syndrome 33 0.024
753
TTL010 Total Anomalous Pulmonary Venous Return 33 0.024
754
c SMP005 Simpson-Golabi-Behmel Syndrome, Type 2 32 0.024
755
PLM018 Pulmonary Sclerosing Hemangioma 32 0.024
756
49X002 49,xxxxy Syndrome 31 0.024
757
c MCP023 Mucopolysaccharidosis Type Ivb 31 0.024
758
NTR005 Nutritional Deficiency Disease 31 0.024
759
CNG122 Congenital Pulmonary Lymphangiectasia 31 0.024
760
SKL007 Skeletal Muscle Regeneration 30 0.024
761
EPD018 Epididymo-Orchitis 30 0.024
762
MNR004 Mounier-Kuhn Syndrome 30 0.024
763
FLT009 Folate Malabsorption, Hereditary 29 0.024
764
PLL005 Pallister-Killian Mosaic Syndrome 29 0.024
765
17Q002 17q23.1q23.2 Microdeletion Syndrome 29 0.024
766
HMC020 Homocystinuria, B6-Responsive and Nonresponsive Types 29 0.024
767
CYT004 Cytomegalic Inclusion Disease 28 0.024
768
CRK001 Cork-Handlers' Disease 28 0.024
769
c DNT021 Dent Disease 2 28 0.024
770
CHR281 Chronic Hiccups 28 0.024
771
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 28 0.024
772
ICH011 Ichthyosis Follicularis Atrichia Photophobia Syndrome 28 0.024
773
MYC014 Mycobacterium Chelonae 27 0.024
774
WLD003 Waldmann Disease 27 0.024
775
MCR095 Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis 27 0.024
776
TBL008 Tibial Hemimelia 27 0.024
777
DFF022 Diffuse Neonatal Hemangiomatosis 27 0.024
778
P HNN005 Hennekam Lymphangiectasia-Lymphedema Syndrome 1 27 0.024
779
IDP021 Idiopathic Myopathy 27 0.024
780
HYP139 Hypotrichosis-Lymphedema-Telangiectasia Syndrome 27 0.024
781
TRC035 Tracheal Agenesis 27 0.024
782
DYS011 Dyskinesia of Esophagus 26 0.024
783
3Q2001 3q29 Deletion Syndrome 26 0.024
784
NTR041 N-Terminal Acetyltransferase Deficiency 26 0.024
785
SDD002 Sudden Infant Death with Dysgenesis of the Testes Syndrome 26 0.024
786
MCR039 Macrophagic Myofasciitis 26 0.024
787
PLM049 Plummer Vinson Syndrome 26 0.024
788
LNG054 Lung Agenesis 26 0.024
789
CLN022 Colonic Atresia 26 0.024
790
c SPS112 Spastic Paraplegia 9, Autosomal Dominant 26 0.024
791
c OST118 Osteogenesis Imperfecta, Type Viii 26 0.024
792
ALP070 Alport Syndrome - Intellectual Disability - Midface Hypoplasia - Elliptocytosis 25 0.024
793
URT016 Urethral Diverticulum 25 0.024
794
ASC004 Ascending Colon Cancer 24 0.024
795
c BRC048 Bruck Syndrome 2 24 0.024
796
OVR047 Ovarian Cystadenocarcinoma 24 0.024
797
RGH009 Right Atrial Isomerism 24 0.024
798
ARG004 Argyria 24 0.024
799
MCR073 Microgastria Limb Reduction Defect 24 0.024
800
HYP179 Hypertrichosis Congenital Generalized X-Linked 23 0.024
801
c OST127 Osteogenesis Imperfecta, Type X 23 0.024
802
HYP343 Hypothryoidism, Congenital, Nongoitrous 4 23 0.024
803
c ART061 Arthrogryposis, Distal, Type 2a 23 0.024
804
c CTS032 Cutis Laxa, Autosomal Recessive, Type Iiib 23 0.024
805
OBS063 Obesity, Morbid, Due to Leptin Deficiency 23 0.024
806
3MC001 3mc Syndrome 2 23 0.024
807
CHR225 Chromosome 1q21.1 Duplication Syndrome 23 0.024
808
CYS015 Cystadenofibroma 23 0.024
809
MLL018 Miller-Dieker Lissencephaly Syndrome 22 0.024
810
c THY071 Thyroid Dyshormonogenesis 1 22 0.024
811
TRN003 Transverse Colon Cancer 22 0.024
812
LYS013 Loeys-Dietz Syndrome, Type 4 22 0.024
813
HMM004 Hamamy Syndrome 22 0.024
814
SHR068 Short-Rib Thoracic Dysplasia 5 with or Without Polydactyly 22 0.024
815
TCK002 Tick Paralysis 22 0.024
816
CHR226 Chromosome 1q41-Q42 Deletion Syndrome 22 0.024
817
ANR019 Anorectal Atresia 21 0.024
818
c HRD009 Hereditary Wilms' Tumor 21 0.024
819
ESN014 Eosinophilic Enteropathy 21 0.024
820
c BNG076 Benign Exophthalmos Syndrome 21 0.024
821
c OST123 Osteogenesis Imperfecta, Type Xiii 21 0.024
822
c 46X001 46 Xy Gonadal Dysgenesis 21 0.024
823
ICH043 Ichthyosis, Spastic Quadriplegia, and Mental Retardation 21 0.024
824
c CRN109 Cranioectodermal Dysplasia 2 21 0.024
825
c SPS094 Spastic Paraplegia 29, Autosomal Dominant 21 0.024
826
ACR045 Acro-Pectoro-Renal Field Defect 21 0.024
827
STR029 Sternal Cleft 20 0.024
828
c CTS038 Cutis Laxa, Autosomal Recessive, Type Iia 20 0.024
829
c ADM009 Adams-Oliver Syndrome 4 20 0.024
830
VSC026 Vesiculitis 19 0.024
831
HCS001 Hec Syndrome 19 0.024
832
c EHL046 Ehlers-Danlos Syndrome, Musculocontractural Type 2 19 0.024
833
PRG023 Progeroid Short Stature with Pigmented Nevi 19 0.024
834
c 3MT005 3 Methylglutaconic Aciduria Type Iv 19 0.024
835
SHP004 Shprintzen Omphalocele Syndrome 19 0.024
836
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 19 0.024
837
MRG001 Morgagni Cataract 19 0.024
838
CRN212 Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome 18 0.024
839
MSN003 Mesenteric Vascular Occlusion 18 0.024
840
c MCR212 Microphthalmia, Syndromic 12 18 0.024
841
14Q001 14q12 Microdeletion Syndrome 18 0.024
842
GRW012 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 18 0.024
843
P PLM069 Pulmonary Venous Return Anomaly 18 0.024
844
MNT146 Mental Retardation, X-Linked, Syndromic, Martin-Probst Type 18 0.024
845
ESP040 Esophageal Duplication Cyst 17 0.024
846
EHL029 Ehlers-Danlos Syndrome, Cardiac Valvular Form 17 0.024
847
RMS006 Ramos-Arroyo Syndrome 17 0.024
848
c SVR048 Severe Canavan Disease 17 0.024
849
INT232 Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag 17 0.024
850
DPH021 Diaphragm Disease 17 0.024
851
3MC002 3mc Syndrome 1 16 0.024
852
GLS018 Glass Syndrome 16 0.024
853
CNG092 Congenital Extrahepatic Portosystemic Shunt 16 0.024
854
RCT033 Rectal Duplication 16 0.024
855
PRV001 Parovarian Cyst 16 0.024
856
SYR004 Syringobulbia 15 0.024
857
BNG042 Benign Multicystic Peritoneal Mesothelioma 15 0.024
858
HNT008 Hunter Rudd Hoffmann Syndrome 15 0.024
859
16P006 16p11.2p12.2 Microdeletion Syndrome 15 0.024
860
16P003 16p13.11 Microdeletion Syndrome 15 0.024
861
PRS106 Persistence of Mullerian Derivatives with Lymphangiectasia and Postaxial Polydactyly 15 0.024
862
PLY032 Polydactyly Postaxial Dental and Vertebral 15 0.024
863
TTT001 Tatton-Brown-Rahman Syndrome 15 0.024
864
HYP230 Hypotelorism Cleft Palate Hypospadias 15 0.024
865
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 15 0.024
866
CHR367 Chromosome 7q11.23 Duplication Syndrome 14 0.024
867
c CRN146 Corneal Dystrophy, Posterior Polymorphous, 3 14 0.024
868
ADN026 Adenocarcinoid Tumor 14 0.024
869
FBL005 Fibular Aplasia 13 0.024
870
INF053 Infantile Spasms Broad Thumbs 13 0.024
871
LPR004 Laparoschisis 13 0.024
872
MRL004 Morillo-Cucci-Passarge Syndrome 13 0.024
873
8Q1001 8q12 Microduplication Syndrome 13 0.024
874
CHR383 Chromosome 1p32-P31 Deletion Syndrome 12 0.024
875
RFM002 Roifman-Chitayat Syndrome 12 0.024
876
MLL008 Mullerian Agenesis 10 0.024
877
EHL011 Ehlers-Danlos Syndrome Beasley Cohen Type 10 0.024
878
CHR203 Chromosome 16p Duplication 8 0.024
879
MCH007 Meacham Winn Culler Syndrome 8 0.024
880
LPM001 Lipoma of Spermatic Cord 7 0.024
881
TTR007 Tetraamelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 6 0.024